KCNJ5 (P48544) variants and mutations
KCNJ5 (also known as P48544) is a human protein-coding gene encoding a g protein-activated inward rectifier potassium channel 4 protein. It contributes to G-protein-activated inward-rectifier potassium current in the heart and endocrine tissues, helping regulate pacemaker activity and membrane potential. Somatic selectivity-altering variants are a common cause of aldosterone-producing adrenal adenomas, while germline variants can cause familial hyperaldosteronism. This analysis covers 992 KCNJ5 variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes familial hyperaldosteronism type III, atrial fibrillation, and aldosterone-producing adrenal cortex adenoma. Example KCNJ5 variants include A2S, A2V, and A2G.
Variant analysis overview
- Gene: KCNJ5
- Protein: P48544
- UniProt accession: P48544
- Organism: Homo sapiens
- Variants analyzed: 992
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 574 unspecified-consequence records; 190 missense variants; 189 synonymous variants; 2 in-frame deletions; 1 protein altering variant; 26 frameshift variants; 6 stop-gained variants; 2 splice-region variants; 1 in-frame insertions; 1 substitution
- Prediction scores: 930 variants have prediction scores (94% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: familial hyperaldosteronism type III, atrial fibrillation, aldosterone-producing adrenal cortex adenoma, Prolonged QT interval, long QT syndrome 13, cardiac arrhythmia, atrial flutter, Abnormality of the cardiovascular system, Romano-Ward syndrome, familial atrial fibrillation, Andersen-Tawil syndrome, Cardiodysrhythmic potassium-sensitive periodic paralysis.
Protein structure and variant hotspots
- Protein features: 2 transmembrane segments; 1 post-translational modification sites.
- Structural context: 109 variants have structural context.
- PTM context: 3 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable KCNJ5 variants
Examples include A2S, A2V, A2G, G3S, G3A, G3G, D4E, D4N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2S (p.Ala2Ser), gnomAD rs1255083704, MetaLR 0.75, MetaSVM 0.30
- A2V (p.Ala2Val), Ensembl rs1944492751, REVEL 0.42, MetaLR 0.62, Uncertain significance, Long QT syndrome
- A2G (p.Ala2Gly), gnomAD 11-128911278-C-G, REVEL 0.41, MetaLR 0.71
- G3S (p.Gly3Ser), TOPMed rs1299108295, MetaLR 0.68, MetaSVM 0.03
- G3A (p.Gly3Ala), gnomAD 11-128911281-G-C, REVEL 0.44, MetaLR 0.69
- G3G (p.Gly3Gly), rs147231878, gnomAD 11-128911282-C-T, CADD 0.37
- D4E (p.Asp4Glu), cosmic curated COSV10440, REVEL 0.47, MetaLR 0.59
- D4N (p.Asp4Asn), rs529755922, ClinGen CA302082, ClinVar RCV000170998, ClinVar RCV001088885, REVEL 0.27, MetaLR 0.72, Conflicting interpretations, Cardiovascular phenotype; not specified; not provided
- S5P (p.Ser5Pro), gnomAD 11-128911286-T-C, REVEL 0.42, MetaLR 0.78
- S5F (p.Ser5Phe), gnomAD 11-128911287-C-T, REVEL 0.52, MetaLR 0.72
- S5S (p.Ser5Ser), rs1250158389, gnomAD 11-128911288-T-C, CADD 8.83
- R6M (p.Arg6Met), cosmic curated COSV10966
- R6S (p.Arg6Ser), rs1944493093, ClinGen CA383245183, ClinVar RCV002408241, ClinVar RCV005042828, REVEL 0.52, MetaLR 0.64, Uncertain significance, Cardiovascular phenotype; Familial hyperaldosteronism type III; Long QT syndrome
- R6K (p.Arg6Lys), gnomAD 11-128911290-G-A, REVEL 0.43, MetaLR 0.71
- R6R (p.Arg6Arg), gnomAD 11-128911291-G-A, CADD 11.30
- N7K (p.Asn7Lys), TOPMed rs1366512964, MetaLR 0.47, MetaSVM -0.59
- N7D (p.Asn7Asp), gnomAD 11-128911292-A-G, REVEL 0.30, MetaLR 0.51
- A8D (p.Ala8Asp), cosmic curated COSV10061
- A8V (p.Ala8Val), Ensembl rs866181648, MetaLR 0.50, MetaSVM -0.63
- M9* (p.Met9Ter), NCI-TCGA Cosmic COSV1006, Variant assessed as somatic; high impact.
- M9V (p.Met9Val), gnomAD 11-128911298-A-G, REVEL 0.53, MetaLR 0.72
- M9T (p.Met9Thr), gnomAD 11-128911299-T-C, REVEL 0.53, MetaLR 0.68
- N10K (p.Asn10Lys), cosmic curated COSV10966, MetaLR 0.61, MetaSVM -0.45
- M13L (p.Met13Leu), cosmic curated COSV10966, MetaLR 0.50, MetaSVM -0.85
- M13V (p.Met13Val), gnomAD 11-128911310-A-G, REVEL 0.26, MetaLR 0.48
- E14V (p.Glu14Val), rs1555144849, ClinGen CA383245374, ClinVar RCV000537051, Ensembl rs1555144849, AlphaMissense 0.18, MetaLR 0.75, Uncertain significance, Long QT syndrome
- E14E (p.Glu14Glu), gnomAD 11-128911315-G-A, CADD 9.50
- I15L (p.Ile15Leu), ExAC rs756853186, gnomAD rs756853186, REVEL 0.36, MetaLR 0.60
- G16E (p.Gly16Glu), ESP rs148692456, ExAC rs148692456, TOPMed rs148692456, gnomAD rs148692456, REVEL 0.36, MetaLR 0.63
- G16R (p.Gly16Arg), cosmic curated COSV57970, MetaLR 0.70, MetaSVM -0.73
- V17D (p.Val17Asp), rs745552297, ClinGen CA6357809, ClinVar RCV003648976, ExAC rs745552297, REVEL 0.39, MetaLR 0.67, Uncertain significance, Long QT syndrome
- V17I (p.Val17Ile), cosmic curated COSV10816, TOPMed rs1464840832, gnomAD rs1464840832, REVEL 0.20, MetaLR 0.54
- V17V (p.Val17Val), rs771842938, gnomAD 11-128911324-C-T, CADD 1.53
- T18I (p.Thr18Ile), rs375669366, ClinGen CA6357811, ClinVar RCV001305885, ClinVar RCV002245954, REVEL 0.31, MetaLR 0.64, Conflicting interpretations, Long QT syndrome; Cardiovascular phenotype; not provided
- P19H (p.Pro19His), TOPMed rs1944493671, gnomAD rs1944493671, MetaLR 0.73, MetaSVM -0.38, Uncertain significance
- P19L (p.Pro19Leu), rs1944493671, ClinGen CA383245456, ClinVar RCV002347551, TOPMed rs1944493671, REVEL 0.25, MetaLR 0.64, Uncertain significance, Cardiovascular phenotype
- P19S (p.Pro19Ser), rs746793322, ClinGen CA6357812, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10061, REVEL 0.22, MetaLR 0.43, Uncertain significance, Cardiovascular phenotype
- W20* (p.Trp20Ter), cosmic curated COSV57968
- W20R (p.Trp20Arg), TOPMed rs1944493785, REVEL 0.35, MetaLR 0.23
- D21E (p.Asp21Glu), gnomAD rs1348543328, REVEL 0.24, MetaLR 0.26
- D21H (p.Asp21His), rs974247640, ClinGen CA230640344, ClinVar RCV002675956, ClinVar RCV003229095, REVEL 0.23, MetaLR 0.53, Uncertain significance, not provided; Long QT syndrome
- D21N (p.Asp21Asn), NCI-TCGA Cosmic COSV5796, cosmic curated COSV57965, REVEL 0.22, MetaLR 0.51, Variant assessed as somatic; moderate impact.
- P22H (p.Pro22His), TOPMed rs1944494149, REVEL 0.24, MetaLR 0.64
- P22L (p.Pro22Leu), rs1944494149, ClinGen CA383245545, ClinVar RCV004520978, REVEL 0.27, MetaLR 0.64, Uncertain significance, Cardiovascular phenotype
- P22T (p.Pro22Thr), gnomAD rs1409187306, MetaLR 0.63, MetaSVM -0.47
- K23E (p.Lys23Glu), rs2497721988, ClinGen CA383245559, ClinVar RCV002369469, Uncertain significance, Cardiovascular phenotype
- K23N (p.Lys23Asn), ExAC rs776463303, gnomAD rs776463303, REVEL 0.24, MetaLR 0.61
- K23R (p.Lys23Arg), rs1944494211, ClinGen CA383245569, ClinVar RCV002362313, TOPMed rs1944494211, REVEL 0.30, MetaLR 0.49, Uncertain significance, Cardiovascular phenotype
- K24E (p.Lys24Glu), gnomAD 11-128911343-A-G, REVEL 0.51, MetaLR 0.81
- K24K (p.Lys24Lys), rs761718553, gnomAD 11-128911345-G-A, CADD 5.33
- I25F (p.Ile25Phe), rs2135998470, ClinGen CA383245608, ClinVar RCV001929410, Ensembl rs2135998470, AlphaMissense 0.07, MetaLR 0.52, Uncertain significance, Long QT syndrome
- P26L (p.Pro26Leu), TOPMed rs1237737451, gnomAD rs1237737451, MetaLR 0.82, MetaSVM 0.10
- P26Q (p.Pro26Gln), TOPMed rs1237737451, gnomAD rs1237737451, REVEL 0.57, MetaLR 0.85
- P26P (p.Pro26Pro), gnomAD 11-128911351-A-G, CADD 8.59
- K27R (p.Lys27Arg), TOPMed rs1944494386, MetaLR 0.82, MetaSVM 0.75
- K27K (p.Lys27Lys), rs771040302, gnomAD 11-128911354-A-G, CADD 1.41
- Q28E (p.Gln28Glu), TOPMed rs1944494472, gnomAD rs1944494472, REVEL 0.41, MetaLR 0.64, Uncertain significance, Familial hyperaldosteronism type III; Long QT syndrome 13; Cardiovascular phenot
- Q28H (p.Gln28His), cosmic curated COSV57962, MetaLR 0.40, MetaSVM -0.56
- Q28R (p.Gln28Arg), gnomAD 11-128911356-A-G, REVEL 0.38, MetaLR 0.61
- Q28Q (p.Gln28Gln), gnomAD 11-128911357-G-A, CADD 4.62
- A29D (p.Ala29Asp), rs863224689, ClinGen CA338459, NCI-TCGA Cosmic COSV5796, cosmic curated COSV57966, REVEL 0.34, MetaLR 0.68, Uncertain significance, Long QT syndrome
- A29V (p.Ala29Val), cosmic curated COSV10966, NCI-TCGA Cosmic COSV5796, MetaLR 0.56, MetaSVM 0.09, Variant assessed as somatic; moderate impact.
- A29S (p.Ala29Ser), gnomAD 11-128911358-G-T, REVEL 0.31, MetaLR 0.63
- R30C (p.Arg30Cys), rs1565551461, NCI-TCGA Cosmic COSV1006, NCI-TCGA Cosmic COSV5796, cosmic curated COSV57966, REVEL 0.57, MetaLR 0.82, Uncertain significance, Familial hyperaldosteronism type III; Long QT syndrome 13; Long QT syndrome
- R30H (p.Arg30His), rs142140011, ClinGen CA6357817, cosmic curated COSV57964, ClinVar RCV002376329, REVEL 0.60, MetaLR 0.81, Uncertain significance, Cardiovascular phenotype; Long QT syndrome
- R30S (p.Arg30Ser), cosmic curated COSV10061, MetaLR 0.71, MetaSVM 0.37
- R30G (p.Arg30Gly), gnomAD 11-128911361-C-G, REVEL 0.62, MetaLR 0.76
- R30R (p.Arg30Arg), rs201886526, gnomAD 11-128911363-C-T, CADD 0.64
- D31G (p.Asp31Gly), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10061, MetaLR 0.55, MetaSVM -0.13, Variant assessed as somatic; moderate impact.
- D31N (p.Asp31Asn), cosmic curated COSV57971, TOPMed rs951592894, gnomAD rs951592894, REVEL 0.31, MetaLR 0.60, Conflicting interpretations, not provided; Cardiovascular phenotype; Familial hyperaldosteronism type III
- D31Y (p.Asp31Tyr), gnomAD 11-128911364-G-T, REVEL 0.57, MetaLR 0.76
- Y32* (p.Tyr32Ter), rs767651199, ClinGen CA6357819, ClinVar RCV003105133, ExAC rs767651199, CADD 24.70, Likely benign
- Y32H (p.Tyr32His), gnomAD 11-128911367-T-C, REVEL 0.12, MetaLR 0.53
- Y32C (p.Tyr32Cys), gnomAD 11-128911368-A-G, REVEL 0.24, MetaLR 0.52
- Y32Y (p.Tyr32Tyr), rs767651199, gnomAD 11-128911369-T-C, CADD 0.44
- V33D (p.Val33Asp), Ensembl rs1944494789, MetaLR 0.45, MetaSVM -0.73
- V33I (p.Val33Ile), gnomAD 11-128911370-G-A, REVEL 0.13, MetaLR 0.43
- V33V (p.Val33Val), gnomAD 11-128911372-C-T, CADD 0.45
- P34H (p.Pro34His), cosmic curated COSV57971, MetaLR 0.79, MetaSVM -0.06
- P34T (p.Pro34Thr), gnomAD 11-128911373-C-A, REVEL 0.24, MetaLR 0.64
- I35F (p.Ile35Phe), ExAC rs752900890, TOPMed rs752900890, gnomAD rs752900890
- I35T (p.Ile35Thr), Ensembl rs1137929, MetaLR 0.65, MetaSVM -0.80
- I35V (p.Ile35Val), ExAC rs752900890, TOPMed rs752900890, gnomAD rs752900890, REVEL 0.26, MetaLR 0.52, Uncertain significance, Long QT syndrome
- A36A (p.Ala36Ala), rs368178459, gnomAD 11-128911381-C-G, CADD 8.57
- T37I (p.Thr37Ile), rs1944494966, ClinGen CA383245903, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10061, REVEL 0.31, MetaLR 0.51, Uncertain significance, Cardiovascular phenotype
- T37T (p.Thr37Thr), gnomAD 11-128911384-A-G, CADD 0.46
- D38A (p.Asp38Ala), Ensembl rs1591450031, MetaLR 0.60, MetaSVM -0.20
- D38N (p.Asp38Asn), rs2135998525, ClinGen CA383245909, cosmic curated COSV57966, ClinVar RCV002017310, REVEL 0.28, MetaLR 0.59, Uncertain significance, Long QT syndrome
- D38H (p.Asp38His), gnomAD 11-128911385-G-C, REVEL 0.49, MetaLR 0.72
- D38G (p.Asp38Gly), gnomAD 11-128911386-A-G, REVEL 0.49, MetaLR 0.62
- R39C (p.Arg39Cys), rs200064599, ClinGen CA6357821, cosmic curated COSV57967, ClinVar RCV002373236, REVEL 0.58, MetaLR 0.77, Likely benign, Cardiovascular phenotype
- R39H (p.Arg39His), rs560269341, ClinGen CA6357822, cosmic curated COSV57963, ClinVar RCV002329981, REVEL 0.39, MetaLR 0.67, Uncertain significance, Long QT syndrome 13; Familial hyperaldosteronism type III; Cardiovascular phenot
- R39S (p.Arg39Ser), ESP rs200064599, ExAC rs200064599, TOPMed rs200064599, gnomAD rs200064599, REVEL 0.50, MetaLR 0.69, Likely benign
- T40A (p.Thr40Ala), Ensembl rs2135998547, MetaLR 0.54, MetaSVM -0.20
- T40M (p.Thr40Met), rs185412918, ClinGen CA6357823, cosmic curated COSV10061, ClinVar RCV001308690, REVEL 0.54, MetaLR 0.76, Conflicting interpretations, not specified; Familial hyperaldosteronism type III; Long QT syndrome 13
- T40T (p.Thr40Thr), rs370114584, gnomAD 11-128911393-G-A, CADD 0.21
- R41C (p.Arg41Cys), rs115012103, ClinGen CA334593, cosmic curated COSV57963, ClinVar RCV000168312, REVEL 0.45, MetaLR 0.62, Benign/Likely benign, Cardiovascular phenotype; Primary dilated cardiomyopathy; Long QT syndrome
- R41H (p.Arg41His), rs139073333, ClinGen CA6357825, cosmic curated COSV57963, ClinVar RCV000543826, REVEL 0.24, MetaLR 0.48, Benign/Likely benign, Cardiovascular phenotype; not specified; not provided
- R41L (p.Arg41Leu), 1000Genomes rs139073333, ESP rs139073333, ExAC rs139073333, TOPMed rs139073333, REVEL 0.42, MetaLR 0.58, Benign
- R41P (p.Arg41Pro), gnomAD 11-128911395-G-C, REVEL 0.55, MetaLR 0.64
- L43M (p.Leu43Met), cosmic curated COSV10061, MetaLR 0.59, MetaSVM -0.39
- L43V (p.Leu43Val), gnomAD 11-128911400-C-G, REVEL 0.22, MetaLR 0.56
- A44T (p.Ala44Thr), NCI-TCGA Cosmic COSV5796, cosmic curated COSV57968, MetaLR 0.40, MetaSVM -0.66, Variant assessed as somatic; moderate impact.
- A44A (p.Ala44Ala), rs757867512, gnomAD 11-128911405-C-T, CADD 0.39
- E45K (p.Glu45Lys), rs372447456, ClinGen CA302085, cosmic curated COSV57965, ClinVar RCV000560761, REVEL 0.39, AlphaMissense 0.09, Conflicting interpretations, Cardiovascular phenotype; not specified; not provided
- E45Q (p.Glu45Gln), rs372447456, ClinGen CA383246044, ClinVar RCV001308888, ESP rs372447456, AlphaMissense 0.09, MetaLR 0.63, Uncertain significance, Long QT syndrome
- E45E (p.Glu45Glu), gnomAD 11-128911408-G-A, CADD 1.51
- G46S (p.Gly46Ser), rs1430519737, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10061, gnomAD rs1430519737, REVEL 0.23, MetaLR 0.43, Variant assessed as somatic; moderate impact.
- G46D (p.Gly46Asp), gnomAD 11-128911410-G-A, REVEL 0.23, MetaLR 0.48
- K47N (p.Lys47Asn), rs1298630101, ClinGen CA383246141, cosmic curated COSV10966, ClinVar RCV002047425, REVEL 0.38, MetaLR 0.70, Uncertain significance, Long QT syndrome
- K47R (p.Lys47Arg), cosmic curated COSV57965, MetaLR 0.76, MetaSVM -0.04
- K48* (p.Lys48Ter), TOPMed rs1303727981, gnomAD rs1303727981, CADD 37.00
- K48K (p.Lys48Lys), rs746630974, gnomAD 11-128911417-G-A, CADD 8.11
- P49S (p.Pro49Ser), cosmic curated COSV10743, ExAC rs768356887, TOPMed rs768356887, gnomAD rs768356887, REVEL 0.53, MetaLR 0.60
- P49T (p.Pro49Thr), ExAC rs768356887, TOPMed rs768356887, gnomAD rs768356887, REVEL 0.55, MetaLR 0.60, Uncertain significance, Long QT syndrome
- P49A (p.Pro49Ala), gnomAD 11-128911418-C-G, REVEL 0.51, MetaLR 0.58
- P49L (p.Pro49Leu), gnomAD 11-128911419-C-T, REVEL 0.60, MetaLR 0.58
- P49P (p.Pro49Pro), rs1197675827, gnomAD 11-128911420-A-G, CADD 2.14
- R50C (p.Arg50Cys), rs781011854, ClinGen CA6357829, cosmic curated COSV57967, ClinVar RCV001312895, REVEL 0.74, AlphaMissense 0.28, Uncertain significance, Cardiovascular phenotype; Long QT syndrome 13; Familial hyperaldosteronism type
- R50H (p.Arg50His), rs748152068, ClinGen CA6357831, cosmic curated COSV57971, ClinVar RCV002028621, REVEL 0.70, AlphaMissense 0.60, Uncertain significance, Cardiovascular phenotype; Familial hyperaldosteronism type III; Long QT syndrome
- R50P (p.Arg50Pro), rs748152068, ClinGen CA6357830, ClinVar RCV002223471, ClinVar RCV003647860, AlphaMissense 0.60, MetaLR 0.78, Uncertain significance, not provided; Long QT syndrome
- R50S (p.Arg50Ser), rs781011854, ClinGen CA383246177, ClinVar RCV004520976, AlphaMissense 0.28, MetaLR 0.77, Uncertain significance, Cardiovascular phenotype
- R50R (p.Arg50Arg), rs1236098620, gnomAD 11-128911423-C-G, CADD 3.48
- R52C (p.Arg52Cys), rs1170740594, NCI-TCGA Cosmic COSV5796, cosmic curated COSV57964, TOPMed rs1170740594, REVEL 0.91, MetaLR 0.89, Uncertain significance, Familial hyperaldosteronism type III
- R52H (p.Arg52His), rs144062083, ClinGen CA6357832, ClinVar RCV001304278, ClinVar RCV002402850, REVEL 0.92, MetaLR 0.88, Uncertain significance, Cardiovascular phenotype; Familial hyperaldosteronism type III; Long QT syndrome
- R52L (p.Arg52Leu), gnomAD 11-128911428-G-T, REVEL 0.93, MetaLR 0.88
- R52R (p.Arg52Arg), gnomAD 11-128911429-C-A, CADD 9.74
- Y53* (p.Tyr53Ter), gnomAD rs1340787109, CADD 36.00
- Y53C (p.Tyr53Cys), cosmic curated COSV57964, MetaLR 0.79, MetaSVM 0.73
- Y53Y (p.Tyr53Tyr), rs1340787109, gnomAD 11-128911432-C-T, CADD 8.04
- M54L (p.Met54Leu), rs1368008601, ClinGen CA383246261, ClinVar RCV001786053, ClinVar RCV004996007, AlphaMissense 0.54, MetaLR 0.63, Uncertain significance, Cardiovascular phenotype; not provided
- E55* (p.Glu55Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E55K (p.Glu55Lys), rs72544301, ClinGen CA230640393, ClinVar RCV002029540, ClinVar RCV002389038, REVEL 0.50, MetaLR 0.72, Uncertain significance, Cardiovascular phenotype; Long QT syndrome; not provided
- E55Q (p.Glu55Gln), TOPMed rs72544301, gnomAD rs72544301, REVEL 0.34, MetaLR 0.66, Uncertain significance
- K56E (p.Lys56Glu), TOPMed rs1425428292, gnomAD rs1425428292, REVEL 0.96, MetaLR 0.96
- K56N (p.Lys56Asn), rs1253531265, NCI-TCGA Cosmic COSV5796, cosmic curated COSV57963, REVEL 0.91, MetaLR 0.96, Uncertain significance, Familial hyperaldosteronism type III; Long QT syndrome 13
- S57R (p.Ser57Arg), 1000Genomes rs6590357, ESP rs6590357, ExAC rs6590357, TOPMed rs6590357, REVEL 0.34, MetaLR 0.65, Benign
- S57T (p.Ser57Thr), TOPMed rs1487831175, gnomAD rs1487831175, REVEL 0.27, MetaLR 0.56, Uncertain significance, Long QT syndrome
- S57N (p.Ser57Asn), gnomAD 11-128911443-G-A, REVEL 0.32, MetaLR 0.35
- S57S (p.Ser57Ser), rs6590357, gnomAD 11-128911444-T-C, CADD 3.67
- G58S (p.Gly58Ser), rs550909372, ClinGen CA6357833, ClinVar RCV002399171, 1000Genomes rs550909372, REVEL 0.95, MetaLR 0.97, Uncertain significance, Cardiovascular phenotype
- K59Q (p.Lys59Gln), ExAC rs775599482, gnomAD rs775599482, REVEL 0.60, MetaLR 0.77
- K59R (p.Lys59Arg), TOPMed rs1944496951, MetaLR 0.77, MetaSVM 0.43
- C60W (p.Cys60Trp), TOPMed rs1944497006, MetaLR 0.95, MetaSVM 1.08
- C60Y (p.Cys60Tyr), gnomAD 11-128911452-G-A, REVEL 0.95, MetaLR 0.96
- N61S (p.Asn61Ser), rs2497722474, ClinGen CA383246409, ClinVar RCV003894141, REVEL 0.93, MetaLR 0.96, Uncertain significance, KCNJ5-related disorder
- N61K (p.Asn61Lys), gnomAD 11-128911456-C-G, REVEL 0.88, MetaLR 0.94
- N61N (p.Asn61Asn), rs760931417, gnomAD 11-128911456-C-T, CADD 5.71
- V62A (p.Val62Ala), NCI-TCGA Cosmic COSV5796, cosmic curated COSV57966, REVEL 0.96, MetaLR 0.95, Variant assessed as somatic; moderate impact.
- V62M (p.Val62Met), rs1389808024, ClinGen CA383246422, NCI-TCGA Cosmic COSV5797, cosmic curated COSV57970, REVEL 0.85, MetaLR 0.95, Uncertain significance, Cardiovascular phenotype; Long QT syndrome
- H63N (p.His63Asn), Ensembl rs1944497184, REVEL 0.43, MetaLR 0.81
- p.His63 Val67del, gnomAD 11-128911451-TGCA, CADD 21.10
- H63H (p.His63His), gnomAD 11-128911462-C-T, CADD 7.65
- H64D (p.His64Asp), ExAC rs764402583, gnomAD rs764402583, REVEL 0.93, MetaLR 0.90
- H64Y (p.His64Tyr), ExAC rs764402583, gnomAD rs764402583, REVEL 0.88, MetaLR 0.89
- H64H (p.His64His), rs140848236, gnomAD 11-128911465-C-T, CADD 3.13
- G65R (p.Gly65Arg), TOPMed rs1356200702, gnomAD rs1356200702, REVEL 0.80, MetaLR 0.89, Uncertain significance
- G65S (p.Gly65Ser), rs1356200702, ClinGen CA383246486, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10061, REVEL 0.65, MetaLR 0.86, Uncertain significance, Long QT syndrome
- G65G (p.Gly65Gly), gnomAD 11-128911468-C-G, CADD 9.14
- N66D (p.Asn66Asp), ExAC rs762464085, gnomAD rs762464085, REVEL 0.91, MetaLR 0.91
- N66K (p.Asn66Lys), ESP rs371347693, ExAC rs371347693, TOPMed rs371347693, gnomAD rs371347693, REVEL 0.67, MetaLR 0.84, Likely benign
- N66N (p.Asn66Asn), rs371347693, gnomAD 11-128911471-C-T, CADD 4.71
- V67F (p.Val67Phe), TOPMed rs1355039204, gnomAD rs1355039204, REVEL 0.85, MetaLR 0.93, Uncertain significance
- V67I (p.Val67Ile), TOPMed rs1355039204, gnomAD rs1355039204, REVEL 0.44, MetaLR 0.62, Uncertain significance, Cardiovascular phenotype; Familial hyperaldosteronism type III; Long QT syndrome
- V67V (p.Val67Val), gnomAD 11-128911474-C-T, CADD 5.41
- E69D (p.Glu69Asp), Ensembl rs1944497670
- E69G (p.Glu69Gly), cosmic curated COSV10743, MetaLR 0.89, MetaSVM 0.95
- T70I (p.Thr70Ile), cosmic curated COSV57968, MetaLR 0.89, MetaSVM 0.96
- T70N (p.Thr70Asn), gnomAD 11-128911482-C-A, REVEL 0.63, MetaLR 0.91
- T70T (p.Thr70Thr), rs750892190, gnomAD 11-128911483-C-T, CADD 11.40
- Y71H (p.Tyr71His), gnomAD 11-128911484-T-C, REVEL 0.72, MetaLR 0.90
- R72P (p.Arg72Pro), gnomAD rs1294878768, REVEL 0.95, MetaLR 0.96
- R72Q (p.Arg72Gln), cosmic curated COSV10061, gnomAD rs1294878768, REVEL 0.91, MetaLR 0.95
- R72W (p.Arg72Trp), rs757877367, ClinGen CA6357841, cosmic curated COSV10966, ClinVar RCV001211391, REVEL 0.95, MetaLR 0.95, Conflicting interpretations, not provided; Long QT syndrome; Familial hyperaldosteronism type III
- R72R (p.Arg72Arg), rs765863138, gnomAD 11-128911489-G-A, CADD 7.04
- Y73* (p.Tyr73Ter), rs2135998712, ClinGen CA383246633, ClinVar RCV002224543, Ensembl rs2135998712, CADD 37.00, Uncertain significance
- p.Leu74delinsGlnPheHisPheLeuGluA, gnomAD 11-128911493-C-CA, CADD 27.60
- L74L (p.Leu74Leu), gnomAD 11-128911495-G-C, CADD 9.03
- S75N (p.Ser75Asn), rs892317617, ClinGen CA230640418, ClinVar RCV002014860, ClinVar RCV002425364, REVEL 0.70, MetaLR 0.87, Uncertain significance, Long QT syndrome 13; Familial hyperaldosteronism type III; Cardiovascular phenot
- S75A (p.Ser75Ala), gnomAD 11-128911495-G-GG, CADD 27.20
Public KCNJ5 analysis runs
- KCNJ5 analysis run — KCNJ5 (992 variants) — completed 2026-08-19